Colchicine-responsive protracted gouty arthritis with systemic inflammatory reactions
Fumiaki Nonaka1, Kiyoshi Migita, Tomoko Haramura
1Department of Rheumatology, Sasebo City General Hospital , Sasebo , Japan.
Modern Rheumatology
|February 19, 2014
Summary
This case study shows colchicine effectively treated severe gouty arthritis with systemic inflammation. A rare MEFV gene mutation may influence gouty arthritis presentation and treatment response.
Area of Science:
- Rheumatology
- Genetics
- Internal Medicine
Background:
- Gouty arthritis, an inflammatory condition caused by urate crystals, typically responds to colchicine in early stages or for prevention.
- Established gouty arthritis is often refractory to colchicine treatment, necessitating alternative therapeutic strategies.
Observation:
- An unusual case of acute gouty arthritis presented with severe systemic inflammatory reactions, including high fever and polymyalgia.
- The patient exhibited refractory polyarthritis and persistent high fever, indicating a severe disease manifestation.
Findings:
- Treatment with oral colchicine successfully eradicated the refractory polyarthritis and high fever.
- Genetic analysis identified a heterozygous mutation in exon 2 of the MEFV gene (E148Q) in the patient.
Implications:
- This case suggests that MEFV gene mutations might alter the clinical presentation and treatment responsiveness of gouty arthritis.
- Further research into the genetic underpinnings of gouty arthritis phenotypes is warranted to personalize treatment approaches.
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